E-viri
Recenzirano
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de Freitas, Júlian Letícia; Rezende Filho, Flávio Moura; Sallum, Juliana M.F.; França, Marcondes Cavalcante; Pedroso, José Luiz; Barsottini, Orlando G.P.
Journal of the neurological sciences, 02/2020, Letnik: 409Journal Article
Ophthalmological abnormalities may occur in specific subtypes of hereditary spastic paraplegia (HSP) and in genetic diseases that present with spastic paraplegia mimicking HSP. These ophthalmological changes may precede the motor symptoms and include pigmentary retinal degeneration, ophthalmoplegia, optic atrophy, cataracts and nystagmus. Some ophthalmological abnormalities are more prevalent in specific forms of HSP. Considering that the diagnosis of HSP is usually difficult and complex, specific ophthalmological changes may guide the genetic testing. There are other genetic diseases such as autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), X-linked adrenoleukodystrophy and spastic paraplegia, optic atrophy and neuropathy (SPOAN) that may mimic HSP and also may present with specific ophthalmological changes. In this article, we review the main ophthalmological changes observed in patients with HSP and HSP-like disorders. •Hereditary spastic paraplegia may present with ophthalmological manifestations.•Important ophthalmological change associated with SPG15 is retinal degeneration.•Ptosis and progressive external ophthalmoplegia are clues for the diagnosis of SPG7.
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Leto | Faktor vpliva | Izdaja | Kategorija | Razvrstitev | ||||
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
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Vir: Osebne bibliografije
in: SICRIS
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